Methylenetetrahydrofolate reductase polymorphisms as risk factors for myelomeningocele Estudio de asociación de base familiar entre polimorfismos de MTHFR y mielomeningocele en Chile

Abstract

Background: Mandatory fortification with folic acid (FA) was implemented in Chile in 2000. Thereafter, the rate of spina bifda decreased by 52 to 55%. Genetic abnormalities in folate metabolism may be involved in the etiology of spina bifda. Aim: To evaluate the association between myelomeningocele (MM) and c.A1298C and c.C677T polymorphisms within the coding gene for 5,10-methylenetetrahydrofolate reductase (MTHFR) in the Chilean population. Material and Methods: These polymorphisms were genotyped in 105 patients showing isolated MM, born after the onset of FA fortification, and in their parents. The transmission disequilibrium test (TDT) was performed to evaluate alterations in the transmission of both alleles and haplotypes MTHFR polymorphism. We also evaluated the presence of parent-origin-effect (POE) of alleles using the Clayton's extension of the TDT. Results: TDT analysis showed no significant distortions in the transmission of alleles or haplotypes. Moreover, although the POE